ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)

dbSNP: rs1555210473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594194 SCV000706770 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002331019 SCV002601706 likely risk allele Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs1555210473 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV005004263 SCV005632350 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2024-03-29 criteria provided, single submitter clinical testing

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